Gene: HACE1

Alternate names for this Gene: SPPRS

Gene Summary: This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor.

Gene is located in Chromosome: 6

Location in Chromosome : 6q16.3

Description of this Gene: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

Type of Gene: protein-coding

rs733724 in HACE1 gene and Multiple Sclerosis PMID 23412934 2013 A genome-wide association study of brain lesion distribution in multiple sclerosis.

rs2499663 in HACE1 gene and Neuroblastoma PMID 22941191 2012 Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.